Varaico: Literature-Extracted Genetic Variants

Gene:SFTPC
Variant:p.I38F
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SFTPC

NM_001317778.2:p.I38F

Associated Papers

Clinical characteristics of SFTPC gene mutations in children: a single-center experience.

Yang T et al.

Italian Journal of Pediatrics, 2025

40890883 (PubMed )
Supplement: 13052_2025_2101_MOESM3_ESM.doc

Systematic review of drug effects in humans and models with surfactant-processing disease.

Klay D et al.

European Respiratory Review : an Official Journal of the European Respiratory Society, 2018

Recurrent diffuse lung disease due to surfactant protein C deficiency.

Kazzi B et al.

Respiratory Medicine Case Reports, 2018

A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy.

Litao MK et al.

Pediatric Pulmonology, 2017

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.

Kröner C et al.

The European Respiratory Journal, 2015

Infant pulmonary function testing in chronic pneumonitis of infancy due to surfactant protein C mutation.

Hevroni A et al.

Pediatric Pulmonology, 2015

Natural history of five children with surfactant protein C mutations and interstitial lung disease.

Avital A et al.

Pediatric Pulmonology, 2014

Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.

Coghlan MA et al.

Bmj Open Respiratory Research, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."